Monday, February 13, 2012

An Update on Hereditary Breast Cancer Testing

We are learning just how different Hereditary Breast Cancer and/or Ovarian Cancer is from the more common varieties and learning more about who to test for the deleterious mutations.


The National Comprehensive Cancer Network updates the guidelines routinely and publishes guidelines online.  You may review them at http://www.nccn.org/professionals/physician_gls/f_guidelines.asp.


It is not that Hereditary Breast Cancer is changing, but that we are understanding more about Hereditary Breast Cancer and who is at risk.  Fortunately, only about 7% of breast cancers are caused by these BRCA 1 & 2 gene mutations.  Another 23% may have a family history, but not in a pattern caused by these mutations, and finally the remaining 70% who are diagnosed with beast cancer do not have a family history.  Finding out who has one of the mutations may allow us a prevention opportunity.  


In general the hereditary component should be thought of in a woman with breast cancer who is young, has a family history of breast cancer in a close relative or a known BRCA 1 or 2 mutation, has ovarian cancer or a relative with ovarian cancer, has a male relative with beast cancer, has had breast cancer twice, and who has a personal history of triple negative breast cancer (TNBC) meaning negative for estrogen, progesterone and HER2 receptors. 


If you have, or know anyone with the following, you should ask your doctor if the test is right for you:

  • breast cancer before the age of 45
  • breast cancer by age 50 with a close relative with breast or ovarian cancer
  • breast cancer two separate times by age 50
  • triple negative breast cancer by age 60
  • close male relative with breast cancer
  • personal history of ovarian cancer
  • Ashkenazi Jewish ethnicity
  • a family history of any of the above

If you decide to be tested, contact your physician.  There are four tests, and your doctor will know which is right for you depending on your personal and family history.


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